Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report

被引：5
|
作者：
Hofstaetter, Cornelia [1 ]
Courage, Carolina [2 ,3 ]
Bartholdi, Deborah [2 ]
Biskup, Saskia [4 ]
Raio, Luigi [1 ]
机构：
[1] Univ Bern, Inselspital, Dept Obstet & Gynecol, Bern, Switzerland
[2] Univ Bern, Inselspital, Dept Pediat, Div Human Genet, Bern, Switzerland
[3] Univ Helsinki, Folkhalsan Inst Genet, Helsinki, Finland
[4] Praxis Humangenet, Paul Ehrlich Str 22, DE-72076 Tubingen, Germany
来源：
CLINICAL CASE REPORTS | 2018年 / 6卷 / 02期
关键词：
BMPER gene; diaphanospondylodysostosis; increased nuchal translucency; missing ossification of spine; prenatal diagnosis; ultrasound;
D O I：
10.1002/ccr3.1368
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：420 / 425
页数：6
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